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information | What is (are) Urinary Tract Infection In Adults ? | A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. ... |
symptoms | What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? | What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. If the information is available, the table below includes how often the ... |
treatment | What are the treatments for Laryngeal cleft ? | How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. Du... |
treatment | What are the treatments for Hemochromatosis ? | Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications.
The goals of treating hemochromatosis include:
Reducing the amount of iron in your body to normal levels
... |
genetic changes | What are the genetic changes related to X-linked hyper IgM syndrome ? | Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune sys... |
prevention | How to prevent Prevent diabetes problems: Keep your heart and blood vessels healthy ? | You can do a lot to prevent heart disease and stroke.
- Keep your blood glucose under control. You can see if your blood glucose is under control by having an A1C test at least twice a year. The A1C test tells you your average blood glucose for the past 2 to 3 months. The target for most people with di... |
information | What is (are) Farber's Disease ? | Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and ... |
symptoms | What are the symptoms of Aniridia ? | What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the d... |
symptoms | What are the symptoms of Prescription and Illicit Drug Abuse ? | Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need. |
treatment | What are the treatments for Prostate Cancer ? | If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who ... |
information | What is (are) Amniotic band syndrome ? | Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputati... |
genetic changes | What are the genetic changes related to Muenke syndrome ? | Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, ... |
causes | What causes Hypotension ? | Conditions or factors that disrupt the body's ability to control blood pressure cause hypotension. The different types of hypotension have different causes.
Orthostatic Hypotension
Orthostatic hypotension has many causes. Sometimes two or more factors combine to cause this type of low ... |
treatment | What are the treatments for Alcohol Use and Older Adults ? | There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and frien... |
outlook | What is the outlook for Sturge-Weber Syndrome ? | Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Pro... |
information | What is (are) Myoclonic epilepsy with ragged red fibers ? | Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary... |
symptoms | What are the symptoms of Autoimmune hepatitis ? | What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal bl... |
causes | What causes Goodpasture Syndrome ? | The causes of Goodpasture syndrome are not fully understood. People who smoke or use hair dyes appear to be at increased risk for this condition. Exposure to hydrocarbon fumes, metallic dust, and certain drugs, such as cocaine, may also raise a persons risk. Genetics may also play a part, as a small number of cases hav... |
genetic changes | What are the genetic changes related to tubular aggregate myopathy ? | Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell thro... |
exams and tests | How to diagnose Hemoglobin E disease ? | How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobi... |
information | What is (are) Renal Tubular Acidosis ? | Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kid... |
genetic changes | What are the genetic changes related to Wolman disease ? | Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they c... |
information | What is (are) Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? | Key Points
- Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. - Signs and symp... |
symptoms | What are the symptoms of Klebsiella infection ? | What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in s... |
inheritance | Is atelosteogenesis type 2 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or ... |
symptoms | What are the symptoms of Spinal intradural arachnoid cysts ? | What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... |
symptoms | What are the symptoms of Rickets ? | What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities |
symptoms | What are the symptoms of Spondylocostal dysostosis 4 ? | What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
information | What is (are) Insulin Resistance and Prediabetes ? | Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood.
Insulin plays a major role in metabolismthe way the body uses digested food for energy. The dig... |
symptoms | What are the symptoms of Keratoderma palmoplantar spastic paralysis ? | What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
symptoms | What are the symptoms of Syndactyly type 3 ? | What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
information | What is (are) Laing distal myopathy ? | Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping w... |
genetic changes | What are the genetic changes related to permanent neonatal diabetes mellitus ? | Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provi... |
research | what research (or clinical trials) is being done for Cerebellar Degeneration ? | The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the d... |
information | What is (are) Cerebral Palsy ? | Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing o... |
susceptibility | Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? | The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slight... |
treatment | What are the treatments for Erythromelalgia ? | What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has prov... |
symptoms | What are the symptoms of Necrotizing fasciitis ? | What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some earl... |
exams and tests | How to diagnose Acromegaly ? | Blood tests
If acromegaly is suspected, a doctor must measure the GH level in a persons blood to determine if it is elevated. However, a single measurement of an elevated blood GH level is not enough to diagnose acromegaly: Because GH is secreted by the pituitary in impulses, or spurts, its concentrati... |
inheritance | Is prion disease inherited ? | Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused... |
information | What is (are) Male Infertility ? | Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include - Physical problems with the testicles - Blockages in the ducts that carry sperm - Hormone problems - A history of high fevers or mumps - Genetic di... |
treatment | What are the treatments for What I need to know about Hepatitis B ? | Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver.
Medicines for Chronic Hepatitis B
Your doctor will choose medicines or a combination of medicines that are likely to work for... |
inheritance | Is Lennox-Gastaut syndrome inherited ? | Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than pe... |
treatment | What are the treatments for multiple cutaneous and mucosal venous malformations ? | These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations These resources from MedlinePlus offer information about the diagnosis and management of variou... |
genetic changes | What are the genetic changes related to Y chromosome infertility ? | As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only mal... |
information | What is (are) Kawasaki syndrome ? | Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mou... |
exams and tests | How to diagnose Extragonadal Germ Cell Tumors ? | Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems u... |
genetic changes | What are the genetic changes related to X-linked agammaglobulinemia ? | Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell de... |
symptoms | What are the symptoms of Parsonage Turner syndrome ? | What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. R... |
exams and tests | How to diagnose Crimean-Congo Hemorrhagic Fever (CCHF) ? | Laboratory tests that are used to diagnose CCHF include antigen-capture enzyme-linked immunosorbent assay (ELISA), real time polymerase chain reaction (RT-PCR), virus isolation attempts, and detection of antibody by ELISA (IgG and IgM). Laboratory diagnosis of a patient with a clinical history compatible with CCHF can ... |
treatment | What are the treatments for Turner syndrome ? | These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co... |
information | What is (are) pseudohypoaldosteronism type 1 ? | Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sw... |
treatment | What are the treatments for Balance Problems ? | In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn... |
research | what research (or clinical trials) is being done for Depression ? | Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditi... |
exams and tests | How to diagnose Greig cephalopolysyndactyly syndrome ? | Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GC... |
information | What is (are) Leprechaunism ? | Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by ... |
information | Do you have information about Stroke Rehabilitation | Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with t... |
frequency | How many people are affected by collagen VI-related myopathy ? | Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature. |
information | What is (are) Mycobacterium Malmoense ? | Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue inf... |
outlook | What is the outlook for Progressive Multifocal Leukoencephalopathy ? | In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities. |
symptoms | What are the symptoms of Barraquer-Simons syndrome ? | What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
exams and tests | How to diagnose Diabetic Kidney Disease ? | People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following:
- urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more... |
information | What is (are) Urinary Incontinence in Men ? | The types of UI in men include
- urgency incontinence - stress incontinence - functional incontinence - overflow incontinence - transient incontinence
Urgency Incontinence
Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, ... |
inheritance | Is familial dysautonomia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
information | What is (are) Congenital mirror movement disorder ? | Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughou... |
genetic changes | What are the genetic changes related to myasthenia gravis ? | Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder. Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions a... |
information | What is (are) cyclic neutropenia ? | Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation... |
inheritance | Is hereditary sensory and autonomic neuropathy type IE inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for Sclerosing mesenteritis ? | How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent f... |
frequency | How many people are affected by 48,XXYY syndrome ? | 48,XXYY syndrome is estimated to affect 1 in 18,000 to 50,000 males. |
frequency | How many people are affected by Klinefelter syndrome ? | Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionall... |
genetic changes | What are the genetic changes related to triple A syndrome ? | Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location,... |
information | What is (are) Von Willebrand disease ? | Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence o... |
symptoms | What are the symptoms of Pericarditis ? | The most common sign of acute pericarditis is sharp, stabbing chest pain. The pain usually comes on quickly. It often is felt in the middle or left side of the chest or over the front of the chest. You also may feel pain in one or both shoulders, the neck, back, and abdomen.
The pain tends to ease when... |
inheritance | Is Castleman disease inherited ? | Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. |
prevention | How to prevent Hearing Loss ? | Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss i... |
information | What is (are) Gaucher Disease ? | Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in th... |
causes | What causes Pseudohypoaldosteronism type 2 ? | What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis. |
stages | What are the stages of Gestational Trophoblastic Disease ? | Key Points
- After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the bo... |
information | What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of th... |
information | What is (are) What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? | Interstitial cystitis*painful bladder syndrome (IC/PBS) is one of several conditions that causes bladder pain and a need to urinate frequently and urgently. Some doctors have started using the term bladder pain syndrome (BPS) to describe this condition.
Your bladder is a balloon-shaped organ where your... |
treatment | What are the treatments for Troyer syndrome ? | How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is use... |
research | what research (or clinical trials) is being done for Megalencephaly ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this res... |
outlook | What is the outlook for Incontinentia Pigmenti ? | Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties. |
information | What is (are) Psoriasis ? | Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues. |
causes | What causes Hyperthyroidism ? | Hyperthyroidism has several causes, including
- Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid
Rarely, hyperthyroidism is caused b... |
inheritance | Is nephrogenic diabetes insipidus inherited ? | When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is su... |
information | What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands a... |
treatment | What are the treatments for Nijmegen breakage syndrome ? | These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, ... |
information | What is (are) Heart Attack ? | Blood Flow to the Heart Is Blocked The heart works 24 hours a day, pumping oxygen and nutrient-rich blood to the body. Blood is supplied to the heart through its coronary arteries. If a blood clot suddenly blocks a coronary artery, it cuts off most or all blood supply to the heart, and a heart attack results. If blood ... |
symptoms | What are the symptoms of Facioscapulohumeral muscular dystrophy ? | What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
inheritance | Is Rabson-Mendenhall syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
exams and tests | How to diagnose Urinary Tract Infections in Children ? | Only a health care provider can determine whether a child has a UTI.
A urine sample will be collected and examined. The way urine is collected depends on the childs age:
- If the child is not yet toilet trained, the health care provider may place a plastic collection bag over the child... |
causes | What causes Gum (Periodontal) Disease ? | Gum disease is caused by dental plaque -- a sticky film of bacteria that builds up on teeth. Regular brushing and flossing help get rid of plaque. But plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar. |
information | What is (are) Intestinal Cancer ? | Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk. Possible signs of small intestine cancer... |
considerations | What to do for Medullary Sponge Kidney ? | - Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complica... |
treatment | What are the treatments for hereditary cerebral amyloid angiopathy ? | These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cereb... |
information | What is (are) Apraxia ? | Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parie... |
genetic changes | What are the genetic changes related to myopathy with deficiency of iron-sulfur cluster assembly enzyme ? | Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters... |
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